MCID: WRD030
MIFTS: 51

Waardenburg Syndrome, Type 1

Categories: Genetic diseases, Rare diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases, Neuronal diseases

Aliases & Classifications for Waardenburg Syndrome, Type 1

MalaCards integrated aliases for Waardenburg Syndrome, Type 1:

Name: Waardenburg Syndrome, Type 1 57 13 40
Waardenburg Syndrome Type 1 12 76 53 59 29 6 73
Ws1 57 12 53 59 75
Waardenburg Syndrome Type I 12 24 59
Waardenburg Syndrome with Dystopia Canthorum 57
Waardenburg's Syndrome Type 1 53
Waardenburg Syndrome, Type I 55
Waardenburg Syndrome 1 75

Characteristics:

Orphanet epidemiological data:

59
waardenburg syndrome type 1
Inheritance: Autosomal dominant; Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability seen in waardenburg syndrome type 1
other variants of waardenburg syndrome include waardenburg syndrome type 2 , waardenburg syndrome type 3 , and waardenburg syndrome type 4


HPO:

32
waardenburg syndrome, type 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Waardenburg Syndrome, Type 1

UniProtKB/Swiss-Prot : 75 Waardenburg syndrome 1: WS1 is an autosomal dominant disorder characterized by non-progressive sensorineural deafness, pigmentary disturbances such as frontal white blaze of hair, heterochromia of irides, white eyelashes, leukoderma, and wide bridge of nose owing to lateral displacement of the inner canthus of each eye (dystopia canthorum). WS1 shows variable clinical expression and some affected individuals do not manifest hearing impairment or iris pigmentation disturbances. Dystopia canthorum is the most consistent sign and is found in 98% of the patients.

MalaCards based summary : Waardenburg Syndrome, Type 1, also known as waardenburg syndrome type 1, is related to waardenburg syndrome, type 2e and waardenburg's syndrome. An important gene associated with Waardenburg Syndrome, Type 1 is PAX3 (Paired Box 3), and among its related pathways/superpathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Neural Crest Differentiation. The drugs Warfarin and Ephedrine have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and bone, and related phenotypes are ptosis and scoliosis

OMIM : 57 Waardenburg syndrome type 1 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and 'dystopia canthorum,' the lateral displacement of the ocular inner canthi (reviews by Read and Newton, 1997, Tamayo et al., 2008, and Pingault et al., 2010). (193500)

NIH Rare Diseases : 53 Waardenburg syndrome type 1 is a genetic condition characterized by eyes that appear widely spaced, congenitalhearing loss, and patchy pigment disturbances of the iris, hair and skin. Mutations in the PAX3 gene cause the symptoms observed in this condition. Treatment is symptomatic and supportive. Waardenburg syndrome type 1 is inherited in an autosomal dominant manner.

Disease Ontology : 12 A Waardenburg's syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has material basis in heterozygous mutation in the PAX3 gene on chromosome 2q36.

Wikipedia : 76 Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness,... more...

GeneReviews:

Related Diseases for Waardenburg Syndrome, Type 1

Diseases in the Waardenburg's Syndrome family:

Waardenburg Syndrome, Type 3 Waardenburg Syndrome, Type 1
Waardenburg Syndrome, Type 2a Waardenburg Syndrome, Type 4a
Waardenburg Syndrome, Type 2b Waardenburg Syndrome, Type 2c
Waardenburg Syndrome, Type 2d Waardenburg Syndrome, Type 2e
Waardenburg Syndrome, Type 4b Waardenburg Syndrome, Type 4c
Waardenburg Syndrome Type 4

Diseases related to Waardenburg Syndrome, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 waardenburg syndrome, type 2e 30.7 MITF SOX10
2 waardenburg's syndrome 28.3 EDN3 MITF PAX3 SOX10
3 waardenburg syndrome, type 2d 11.0
4 waardenburg syndrome, type 3 10.8
5 waardenburg syndrome, type 2a 10.8
6 waardenburg syndrome, type 2b 10.8
7 waardenburg syndrome, type 2c 10.8
8 waardenburg syndrome, type 4b 10.8
9 waardenburg syndrome, type 4c 10.8
10 craniofacial-deafness-hand syndrome 10.2 CCDC140 PAX3
11 childhood kidney cell carcinoma 10.1 MITF PAX3
12 piebald trait 9.9 MITF PAX3
13 renal dysplasia, cystic 9.8
14 multicystic dysplastic kidney 9.8
15 hermansky-pudlak syndrome 1 9.7 PAX3 SOX10
16 malignant spindle cell melanoma 9.6 MITF SOX10
17 cellular schwannoma 9.6 PAX3 SOX10
18 breast angiosarcoma 9.6 MITF SOX10
19 sensorineural hearing loss 9.5 MITF PAX3
20 colonic disease 9.4 EDN3 SOX10
21 neurofibroma 9.3 MITF SOX10
22 megacolon 9.1 EDN3 SOX10
23 waardenburg syndrome type 4 9.0 EDN3 MITF SOX10
24 waardenburg syndrome, type 4a 9.0 EDN3 MITF SOX10
25 tietz albinism-deafness syndrome 8.5 EDN3 MITF PAX3 SOX10
26 cochlear disease 8.5 EDN3 MITF PAX3 SOX10
27 dyschromatosis symmetrica hereditaria 8.5 EDN3 MITF PAX3 SOX10
28 hirschsprung disease 1 8.5 EDN3 MITF PAX3 SOX10

Graphical network of the top 20 diseases related to Waardenburg Syndrome, Type 1:



Diseases related to Waardenburg Syndrome, Type 1

Symptoms & Phenotypes for Waardenburg Syndrome, Type 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
blepharophimosis
synophrys
laterally displaced inner canthi (dystopia canthorum) (95 to 99%)
increased intercanthal distance
more
Head And Neck Face:
smooth philtrum
decreased philtrum length

Skin Nails Hair Hair:
premature graying of hair
white forelock
bushy eyebrows
white eyelashes and eyebrows

Head And Neck Mouth:
cleft lip/palate
mandibular prognathism

Head And Neck Ears:
congenital sensorineural deafness

Genitourinary Internal Genitalia Female:
absent uterine adnexa (rare)

Neurologic Central Nervous System:
spina bifida (less common)
myelomeningocele (less common)

Head And Neck Nose:
wide nasal bridge
hypoplastic alae nasi
broad, high nasal root
decreased nasal bone length

Skeletal Spine:
sprengel anomaly
supernumerary vertebrae

Chest Ribs Sternum Clavicles And Scapulae:
supernumerary ribs

Skin Nails Hair Skin:
congenital partial albinism (leukoderma) on face, trunk, or limbs
hypopigmented skin lesions

Genitourinary External Genitalia Female:
absent vagina (rare)

Skeletal Skull:
aplasia of posterior semicircular canal on ct scan


Clinical features from OMIM:

193500

Human phenotypes related to Waardenburg Syndrome, Type 1:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
2 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
3 mandibular prognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000303
4 wide nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000431
5 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
6 thick eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0000574
7 abnormality of vision 59 32 hallmark (90%) Very frequent (99-80%) HP:0000504
8 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
9 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
10 sprengel anomaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000912
11 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
12 underdeveloped nasal alae 59 32 frequent (33%) Frequent (79-30%) HP:0000430
13 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
14 heterochromia iridis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001100
15 premature graying of hair 59 32 frequent (33%) Frequent (79-30%) HP:0002216
16 aganglionic megacolon 59 32 occasional (7.5%) Occasional (29-5%) HP:0002251
17 meningocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002435
18 spina bifida 59 32 Occasional (29-5%) HP:0002414
19 lacrimation abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000632
20 white forelock 59 32 hallmark (90%) Very frequent (99-80%) HP:0002211
21 tented upper lip vermilion 59 32 frequent (33%) Frequent (79-30%) HP:0010804
22 white hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0011364
23 cleft upper lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0000204
24 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
25 white eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002226
26 white eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0002227
27 congenital sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0008527
28 hypertelorism 32 HP:0000316
29 hearing impairment 59 Very frequent (99-80%)
30 smooth philtrum 32 HP:0000319
31 abnormality of the eye 59 Very frequent (99-80%)
32 malformation of the heart and great vessels 59 Occasional (29-5%)
33 hypopigmentation of hair 59 Very frequent (99-80%)
34 blepharophimosis 32 HP:0000581
35 hypopigmentation of the fundus 32 HP:0007894
36 abnormality of the hair 59 Frequent (79-30%)
37 supernumerary ribs 32 HP:0005815
38 oral cleft 32 HP:0000202
39 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
40 partial albinism 32 HP:0007443
41 myelomeningocele 32 occasional (7.5%) HP:0002475
42 hypoplastic iris stroma 32 HP:0007990
43 supernumerary vertebrae 32 HP:0002946
44 aplasia of the vagina 32 HP:0003250

MGI Mouse Phenotypes related to Waardenburg Syndrome, Type 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 embryo MP:0005380 9.46 SOX10 EDN3 MITF PAX3
2 integument MP:0010771 9.26 SOX10 EDN3 MITF PAX3
3 pigmentation MP:0001186 8.92 EDN3 MITF PAX3 SOX10

Drugs & Therapeutics for Waardenburg Syndrome, Type 1

Drugs for Waardenburg Syndrome, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Warfarin Approved 81-81-2 6691 54678486
2
Ephedrine Approved Not Applicable 299-42-3 9294
3
Histamine Approved, Investigational Not Applicable 75614-87-8, 51-45-6 774
4
Imipramine Approved Not Applicable 50-49-7 3696
5
Loratadine Approved, Investigational Not Applicable 79794-75-5 3957
6
Pseudoephedrine Approved Not Applicable 90-82-4 7028
7 Anticoagulants
8 Platelet Aggregation Inhibitors
9 Anti-Allergic Agents Not Applicable
10 Antidepressive Agents Not Applicable
11 Antidepressive Agents, Tricyclic Not Applicable
12 Antipruritics Not Applicable
13 Antipsychotic Agents Not Applicable
14 Dermatologic Agents Not Applicable
15 Histamine Antagonists Not Applicable
16 Histamine H1 Antagonists Not Applicable
17 Histamine H1 Antagonists, Non-Sedating Not Applicable
18
Histamine Phosphate Not Applicable 51-74-1 65513
19 Neurotransmitter Agents Not Applicable
20 Quetiapine Fumarate Not Applicable 111974-72-2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Ongoing WARfarin and Coronary STENTing Unknown status NCT00722319
2 Effectiveness of Qufeng Shengshi Fang on Treatment of Allergic Rhinitis. Not yet recruiting NCT02653339 Not Applicable Qufeng Shengshi Fang and Loratadine;Loratadine
3 Diversity Analysis of Vaginal Microbiota on Women With High-risk Human Papillomavirus Infection Not yet recruiting NCT03548740

Search NIH Clinical Center for Waardenburg Syndrome, Type 1

Genetic Tests for Waardenburg Syndrome, Type 1

Genetic tests related to Waardenburg Syndrome, Type 1:

# Genetic test Affiliating Genes
1 Waardenburg Syndrome Type 1 29 PAX3

Anatomical Context for Waardenburg Syndrome, Type 1

MalaCards organs/tissues related to Waardenburg Syndrome, Type 1:

41
Eye, Skin, Bone, Heart, Kidney

Publications for Waardenburg Syndrome, Type 1

Articles related to Waardenburg Syndrome, Type 1:

(show all 13)
# Title Authors Year
1
Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. ( 29224756 )
2017
2
A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1. ( 23378733 )
2013
3
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1. ( 20664692 )
2010
4
Waardenburg syndrome type 1. ( 16638435 )
2006
5
[Clinical and molecular genetic investigation of Waardenburg syndrome type 1]. ( 12666593 )
2003
6
Multicystic dysplastic kidney associated with Waardenburg syndrome type 1. ( 9438657 )
1997
7
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1. ( 9067759 )
1997
8
Analysis of locus heterogeneity in Waardenburg syndrome types 1 and 2 using highly informative microsatellite markers. ( 7590754 )
1995
9
Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families. ( 7825605 )
1995
10
A single base pair substitution within the paired box of PAX3 in an individual with Waardenburg syndrome type 1 (WS1). ( 7833953 )
1994
11
A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family. ( 7902163 )
1993
12
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. ( 8490648 )
1993
13
A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family. ( 1303193 )
1992

Variations for Waardenburg Syndrome, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Waardenburg Syndrome, Type 1:

75 (show all 23)
# Symbol AA change Variation ID SNP ID
1 PAX3 p.Phe45Leu VAR_003790
2 PAX3 p.Pro50Leu VAR_003793 rs104893650
3 PAX3 p.Arg56Leu VAR_003794 rs267606931
4 PAX3 p.Ile59Phe VAR_003795
5 PAX3 p.Ile59Asn VAR_003796
6 PAX3 p.Val60Met VAR_003797
7 PAX3 p.Met62Val VAR_003798
8 PAX3 p.Gly81Ala VAR_003800 rs587776586
9 PAX3 p.Lys85Glu VAR_003802
10 PAX3 p.Gly99Asp VAR_003803
11 PAX3 p.Phe238Ser VAR_003804
12 PAX3 p.Val265Phe VAR_003805
13 PAX3 p.Arg271Gly VAR_003806
14 PAX3 p.Arg270Cys VAR_013619
15 PAX3 p.Ser73Leu VAR_013640
16 PAX3 p.Gln391His VAR_013641
17 PAX3 p.Gly48Arg VAR_017533
18 PAX3 p.Val78Met VAR_017534
19 PAX3 p.Trp266Cys VAR_017536
20 PAX3 p.Arg271Cys VAR_017537
21 PAX3 p.Arg271His VAR_017538 rs774528745
22 PAX3 p.His80Asp VAR_079619 rs387906947
23 PAX3 p.Leu234Pro VAR_079621

ClinVar genetic disease variations for Waardenburg Syndrome, Type 1:

6
(show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAX3 PAX3, 1-BP DEL deletion Pathogenic
2 PAX3 PAX3, 2-BP DEL, 556CA deletion Pathogenic
3 PAX3 PAX3, 18-BP DEL, EX2 deletion Pathogenic
4 PAX3 NM_181457.3(PAX3): c.149C> T (p.Pro50Leu) single nucleotide variant Pathogenic rs104893650 GRCh37 Chromosome 2, 223161869: 223161869
5 PAX3 NM_181457.3(PAX3): c.149C> T (p.Pro50Leu) single nucleotide variant Pathogenic rs104893650 GRCh38 Chromosome 2, 222297150: 222297150
6 PAX3 PAX3, 14-BP DEL, EX2 deletion Pathogenic
7 PAX3 NM_181457.3(PAX3): c.242G> C (p.Gly81Ala) single nucleotide variant Pathogenic rs587776586 GRCh37 Chromosome 2, 223161776: 223161776
8 PAX3 NM_181457.3(PAX3): c.242G> C (p.Gly81Ala) single nucleotide variant Pathogenic rs587776586 GRCh38 Chromosome 2, 222297057: 222297057
9 PAX3 PAX3, 5-BP DEL, EX5 deletion Pathogenic
10 PAX3 NM_001127366.2(PAX3): c.251C> T (p.Ser84Phe) single nucleotide variant Pathogenic rs104893651 GRCh37 Chromosome 2, 223161767: 223161767
11 PAX3 NM_001127366.2(PAX3): c.251C> T (p.Ser84Phe) single nucleotide variant Pathogenic rs104893651 GRCh38 Chromosome 2, 222297048: 222297048
12 PAX3 NM_181457.3(PAX3): c.167G> T (p.Arg56Leu) single nucleotide variant Pathogenic rs267606931 GRCh37 Chromosome 2, 223161851: 223161851
13 PAX3 NM_181457.3(PAX3): c.167G> T (p.Arg56Leu) single nucleotide variant Pathogenic rs267606931 GRCh38 Chromosome 2, 222297132: 222297132
14 PAX3 NM_181457.3(PAX3): c.238C> G (p.His80Asp) single nucleotide variant Pathogenic rs387906947 GRCh37 Chromosome 2, 223161780: 223161780
15 PAX3 NM_181457.3(PAX3): c.238C> G (p.His80Asp) single nucleotide variant Pathogenic rs387906947 GRCh38 Chromosome 2, 222297061: 222297061
16 PAX3 PAX3, 1-BP DEL, 556C deletion Pathogenic
17 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh37 Chromosome 2, 223085955: 223085955
18 PAX3 NM_181457.3(PAX3): c.944C> A (p.Thr315Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs2234675 GRCh38 Chromosome 2, 222221236: 222221236
19 PAX3 NM_181459.3(PAX3): c.415A> T (p.Lys139Ter) single nucleotide variant Pathogenic rs876661317 GRCh37 Chromosome 2, 223160283: 223160283
20 PAX3 NM_181459.3(PAX3): c.415A> T (p.Lys139Ter) single nucleotide variant Pathogenic rs876661317 GRCh38 Chromosome 2, 222295564: 222295564
21 PAX3 NM_181459.3(PAX3): c.1195C> G (p.His399Asp) single nucleotide variant Likely benign GRCh37 Chromosome 2, 223066888: 223066888
22 PAX3 NM_181459.3(PAX3): c.1195C> G (p.His399Asp) single nucleotide variant Likely benign GRCh38 Chromosome 2, 222202169: 222202169
23 PAX3 NM_181459.3(PAX3): c.790C> T (p.Gln264Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 223096799: 223096799
24 PAX3 NM_181459.3(PAX3): c.790C> T (p.Gln264Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 222232080: 222232080
25 PAX3 NM_181457.3(PAX3): c.727_739delTACCCTGACATTT (p.Tyr243Ilefs) deletion Likely pathogenic GRCh37 Chromosome 2, 223096850: 223096862
26 PAX3 NM_181457.3(PAX3): c.727_739delTACCCTGACATTT (p.Tyr243Ilefs) deletion Likely pathogenic GRCh38 Chromosome 2, 222232131: 222232143
27 PAX3 NM_181459.3(PAX3): c.464delG (p.Ser155Thrfs) deletion Likely pathogenic GRCh37 Chromosome 2, 223159008: 223159008
28 PAX3 NM_181459.3(PAX3): c.464delG (p.Ser155Thrfs) deletion Likely pathogenic GRCh38 Chromosome 2, 222294289: 222294289
29 PAX3 NM_181457.3(PAX3): c.149_160delCGCTGCCCAACC (p.Pro50_Asn53del) deletion Likely pathogenic GRCh37 Chromosome 2, 223161858: 223161869
30 PAX3 NM_181457.3(PAX3): c.149_160delCGCTGCCCAACC (p.Pro50_Asn53del) deletion Likely pathogenic GRCh38 Chromosome 2, 222297139: 222297150
31 PAX3 NM_181459.3(PAX3): c.142G> T (p.Gly48Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 223161876: 223161876
32 PAX3 NM_181459.3(PAX3): c.142G> T (p.Gly48Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 222297157: 222297157
33 PAX3 NM_181459.3(PAX3): c.142G> C (p.Gly48Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 223161876: 223161876
34 PAX3 NM_181459.3(PAX3): c.142G> C (p.Gly48Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 222297157: 222297157
35 PAX3 NM_181459.3(PAX3): c.124G> C (p.Gly42Arg) single nucleotide variant Likely pathogenic rs773327091 GRCh37 Chromosome 2, 223161894: 223161894
36 PAX3 NM_181459.3(PAX3): c.124G> C (p.Gly42Arg) single nucleotide variant Likely pathogenic rs773327091 GRCh38 Chromosome 2, 222297175: 222297175

Expression for Waardenburg Syndrome, Type 1

Search GEO for disease gene expression data for Waardenburg Syndrome, Type 1.

Pathways for Waardenburg Syndrome, Type 1

Pathways related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.38 ALPP MITF
2 11.14 MITF PAX3 SOX10
3 10.9 MITF PAX3
4 10.41 MITF PAX3 SOX10

GO Terms for Waardenburg Syndrome, Type 1

Biological processes related to Waardenburg Syndrome, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.13 MITF PAX3 SOX10
2 melanocyte differentiation GO:0030318 8.62 EDN3 MITF

Sources for Waardenburg Syndrome, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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